Variant report

Variant	nsv553274
Chromosome Location	chr11:5719835-5722381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5700598..5702290-chr11:5720300..5722601,2	K562	blood:
2	chr11:5721533..5723837-chr11:5757099..5760021,2	K562	blood:
3	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
4	11:5586716-5591774..11:5721056-5732713	GM12878	blood:
5	11:5087036-5092291..11:5721056-5732713	K562	blood:
6	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
7	11:5714465-5718134..11:5720889-5721056	Hela-S3	cervix:
8	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
9	11:5033143-5038367..11:5721056-5732713	GM12878	blood:

Variant related genes	Relation type
ENSG00000233646	chromatin interactions
ENSG00000181023	chromatin interactions
ENSG00000273085	chromatin interactions
ENSG00000230484	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000224300	chromatin interactions
ENSG00000227023	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000225003	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2291844	chr11:5719835-5719836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7950912	chr11:5719848-5719849	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs567385152	chr11:5719849-5719850	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371140340	chr11:5719880-5719881	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116562936	chr11:5719886-5719887	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79135839	chr11:5719899-5719900	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181714113	chr11:5719900-5719901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539613395	chr11:5719921-5719922	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558044029	chr11:5719946-5719947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7950181	chr11:5719960-5719961	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540650042	chr11:5719975-5719976	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562862184	chr11:5719985-5719986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574119128	chr11:5720005-5720006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138670253	chr11:5720009-5720010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7950219	chr11:5720020-5720021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs533183596	chr11:5720021-5720022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545191739	chr11:5720036-5720037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560474430	chr11:5720040-5720041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111288248	chr11:5720041-5720042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549012145	chr11:5720071-5720072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550969735	chr11:5720079-5720080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567144663	chr11:5720107-5720108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531298960	chr11:5720118-5720119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149296696	chr11:5720148-5720149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116309427	chr11:5720149-5720150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539677379	chr11:5720250-5720251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144562282	chr11:5720255-5720256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186772130	chr11:5720301-5720302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75507183	chr11:5720326-5720327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555985005	chr11:5720436-5720437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572400211	chr11:5720451-5720452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11038758	chr11:5720476-5720477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573954000	chr11:5720477-5720478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544589649	chr11:5720481-5720482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191265350	chr11:5720483-5720484	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578133961	chr11:5720521-5720522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183069357	chr11:5720525-5720526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560088194	chr11:5720536-5720537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527627068	chr11:5720545-5720546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367981994	chr11:5720550-5720551	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567338319	chr11:5720551-5720552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558051039	chr11:5720598-5720599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368324783	chr11:5720599-5720600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12277273	chr11:5720608-5720609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536466167	chr11:5720614-5720615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371923348	chr11:5720615-5720616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372141270	chr11:5720622-5720623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573454758	chr11:5720624-5720625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12222909	chr11:5720627-5720628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569970697	chr11:5720678-5720679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
2	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
4	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
8	chr11:5712400-5731800	Weak transcription	NH-A	brain
9	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
10	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
11	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
13	chr11:5712600-5730200	Weak transcription	NHEK	skin
14	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
16	chr11:5713000-5723000	Weak transcription	Right Ventricle	heart
17	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
18	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:5715000-5721400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:5716200-5720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:5716200-5721000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:5716200-5721400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:5716200-5724200	Strong transcription	Osteobl	bone
32	chr11:5716800-5721200	Strong transcription	Primary B cells from cord blood	blood
33	chr11:5717000-5720000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:5717000-5720000	Strong transcription	Aorta	Aorta
35	chr11:5717000-5720200	Strong transcription	Primary T cells from cord blood	blood
36	chr11:5717000-5720200	Strong transcription	Thymus	Thymus
37	chr11:5717000-5720600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:5717200-5720000	Strong transcription	Colon Smooth Muscle	Colon
39	chr11:5717200-5720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:5717200-5721600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:5717200-5721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:5717200-5721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:5717400-5720000	Strong transcription	Spleen	Spleen
44	chr11:5717400-5720200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:5717400-5720200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:5717400-5720200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:5717400-5720200	Strong transcription	Liver	Liver
48	chr11:5717400-5720200	Strong transcription	Fetal Thymus	thymus
49	chr11:5717400-5720200	Strong transcription	HMEC	breast
50	chr11:5717400-5720400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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